{"id":45862,"date":"2021-10-11T10:30:03","date_gmt":"2021-10-11T01:30:03","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-31-1deletion\/"},"modified":"2025-08-11T12:49:46","modified_gmt":"2025-08-11T03:49:46","slug":"7q21-3-31-1deletion","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-31-1deletion\/?lang=zh-hans","title":{"rendered":"\u5bf9\u4e25\u91cd\u9752\u5149\u773c\u5728\u5185\u7684\u591a\u79cd\u5148\u5929\u6027\u5f02\u5e38\u7684\u5973\u5b69\u901a\u8fc7CGH\u2010SNP\u9635\u5217\u8fdb\u884cde novo 7q21.3q31.1\u7f3a\u5931\u7684\u7b80\u8981\u8bf4\u660e\u3010\u8bba\u6587\u3011"},"content":{"rendered":"\n<h2 class=\"wp-block-heading hidden-heading\"><\/h2>\n\n\n\n<p>L. Mart\u00ednez-Jacobo <sup>a<\/sup> C. C\u00f3rdova-Fletes <sup>a, b<\/sup> R. Ortiz-L\u00f3pez <sup>a, b<\/sup> F. Rivas <sup>c<\/sup>C. Saucedo-Carrasco <sup>d<\/sup> A. Rojas-Mart\u00ednez <sup>a, b<\/sup><\/p>\n\n\n\n<p><sup>a \u533b\u5b66\u90e8\u751f\u5316\u5b66\u30fb\u5206\u5b50\u533b\u5b66\u79d1\u3001b \u5206\u5b50\u751f\u7269\u5b66\u90e8\u3001 \u57fa\u56e0\u7ec4\u5b66\u548c\u6d4b\u5e8f\u5b66\u3001 \u8499\u7279\u96f7\u7684\u65b0\u83b1\u6602\u5dde\u81ea\u6cbb\u5927\u5b66\u5065\u5eb7\u79d1\u5b66\u7814\u7a76\u5f00\u53d1\u4e2d\u5fc3\u3001 c \u5965\u514b\u897f\u767b\u7279\u7efc\u5408\u533b\u9662\u3001\u54c8\u5229\u65af\u79d1\u5dde\u536b\u751f\u90e8\u3001\u74dc\u8fbe\u62c9\u54c8\u62c9\u4e8b\u52a1\u5c40\u3001\u4ee5\u53ca d \u79c1\u4eba\u529e\u516c\u5ba4\u3001\u5c0f\u513f\u79d1\u3001\u5723\u8def\u6613\u65af\u6ce2\u6258\u897f\u3001\u58a8\u897f\u54e5<\/sup><\/p>\n\n\n\n<hr class=\"wp-block-separator has-css-opacity\"\/>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 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ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-31-1deletion\/?lang=zh-hans\/#%E8%A1%A81_%E4%BB%8E7q21q32%E4%B8%AD%E6%8A%A5%E5%91%8A%E7%9A%84%E7%9A%84%E7%BC%BA%E5%A4%B1%E7%97%85%E4%BE%8B%E6%98%8E%E7%A1%AE%E4%B8%B4%E5%BA%8A%E7%89%B9%E5%BE%81%EF%BC%8C%E4%B8%8E7q213q311%E9%A2%86%E5%9F%9F%E6%98%8E%E6%98%BE%E9%87%8D%E5%8F%A0\" >\u88681. \u4ece7q21q32\u4e2d\u62a5\u544a\u7684\u7684\u7f3a\u5931\u75c5\u4f8b\u660e\u786e\u4e34\u5e8a\u7279\u5f81\uff0c\u4e0e7q21.3q31.1\u9886\u57df\u660e\u663e\u91cd\u53e0<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-31-1deletion\/?lang=zh-hans\/#%E8%A1%A82_7q213q311%E7%9A%84%E7%BC%BA%E5%A4%B1%E5%9F%BA%E5%9B%A0%EF%BC%8C%E5%8F%AF%E8%83%BD%E4%B8%8E%E5%85%B6%E4%BB%96%E7%B1%BB%E4%BC%BC%E7%BC%BA%E5%A4%B1%E7%97%85%E4%BE%8B%E4%B8%AD%E7%BB%8F%E5%B8%B8%E5%87%BA%E7%8E%B0%E7%9A%84%E4%B8%80%E4%BA%9B%E4%B8%B4%E5%BA%8A%E7%89%B9%E5%BE%81%E6%9C%89%E5%85%B3\" >\u88682. 7q21.3q31.1\u7684\u7f3a\u5931\u57fa\u56e0\uff0c\u53ef\u80fd\u4e0e\u5176\u4ed6\u7c7b\u4f3c\u7f3a\u5931\u75c5\u4f8b\u4e2d\u7ecf\u5e38\u51fa\u73b0\u7684\u4e00\u4e9b\u4e34\u5e8a\u7279\u5f81\u6709\u5173<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-31-1deletion\/?lang=zh-hans\/#%E9%B8%A3%E8%B0%A2\" >\u9e23\u8c22<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-31-1deletion\/?lang=zh-hans\/#%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\" >\u53c2\u8003\u6587\u732e<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-31-1deletion\/?lang=zh-hans\/#KARGER\" >KARGER<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h3 class=\"wp-block-heading\" id=\"\u30ad\u30fc\u30ef\u30fc\u30c9\"><span class=\"ez-toc-section\" id=\"%E5%85%B3%E9%94%AE%E8%AF%8D\"><\/span>\u5173\u952e\u8bcd<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9635\u5217CGH \u30fb \u5019\u9009\u57fa\u56e0 \u30fb Delineation del(7q) \u30fb \u624b\u88c2\u8db3\u88c2\u9886\u57df<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u8981\u7d04\"><span class=\"ez-toc-section\" id=\"%E8%A6%81%E7%BA%A6\"><\/span>\u8981\u7ea6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5728\u8fd9\u9879\u7814\u7a76\u4e2d\uff0c\u6211\u4eec\u4ecb\u7ecd\u4e86\u4e00\u540d\u5973\u6027\u60a3\u8005\uff0c\u5176\u901a\u8fc7G\u2010\u5e26\u548cCGH\u2010SNP\u9635\u5217\u6d4b\u5b9a\u4e867q21.3q31.1\u7684\u51fa\u751f\u65f6\u6709\u4e00\u4e2a\u65b0\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u3002 \u8be5\u60a3\u8005\u8868\u73b0\u51fa\u7cbe\u795e\u8fd0\u52a8\u8fdf\u7f13\u3001\u5148\u5929\u6027\u4e25\u91cd\u7684\u53cc\u4fa7\u9752\u5149\u773c\u3001\u816d\u88c2\u548c\u5fc3\u810f\u7f3a\u9677\u7b49\u7279\u5f81\u3002 \u5fae\u9635\u5217\u68c0\u6d4b\u663e\u793a\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u768412.5Mb\u9886\u57df\uff0c\u5728\u4e0e\u624b\u6307\u548c\u811a\u8dbe\u7578\u5f62\u6709\u5173\u7684\u533a\u57df\u7ea688kb\u7684\u4e0b\u6e38\uff1b\u56e0\u6b64\uff0c\u60a3\u8005\u7684\u6700\u7ec8\u6838\u578b\u4e3a46,XX.arr 7q21.3q31.1(96,742,140\uff5e109,246,085)\u00d71dn\u3002\u8fd9\u4e2a\u5973\u5b69\u662f\u8fc4\u4eca\u4e3a\u6b62\u8bb0\u8f7d\u7684\u7b2c4\u540d\u60a3\u8005\uff0c\u5148\u5929\u6027\u9752\u5149\u773c\u4ee5\u53ca\u5305\u62ec7q21.3q31.1\u9886\u57df\u5728\u5185\u7684\u91cd\u590d<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\uff0c\u8bc1\u5b9e\u4e86\u4e0e\u8fd9\u79cd\u4e34\u5e8a\u7279\u5f81\u76f8\u5173\u7684\u57fa\u56e0\u6216\u8005\u57fa\u56e0\u7684\u5b58\u5728\u3002 \u6839\u636e\u4f5c\u8005\u7684\u7ed3\u679c\uff0c\u7ee7\u53d1\u4e8e7q\u4e2d\u95f4<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u773c\u90e8\u7f3a\u9677\u7684\u8d8b\u52bf\uff0c\u53ef\u80fd\u662f\u7531TAC1\u3001HBP1\u3001\u53ca\u7ec6\u80de\u8272\u7d20P450\u57fa\u56e0\u7684\u5c0f\u96c6\u7fa4(\u4e9a\u5bb6\u65cf3A)\u7684\u540c\u65f6<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u9020\u6210\u7684\u3002 \u8fd9\u4e00\u7ed3\u8bba\u5f97\u5230\u4e86\u529f\u80fd\u4f5c\u7528\u548c\u53d1\u73b0\u90e8\u4f4d\u7684\u652f\u6301\u3002\u53e6\u5916\uff0cTAC1\u5177\u6709\u4e0e\u9752\u5149\u773c\u76f8\u5173\u7684\u7a81\u53d8\u7684MYOC\u57fa\u56e0\u7684\u529f\u80fd\u8def\u5f84\u76f8\u5173\u3002 \u6b64\u5916\uff0c\u9274\u4e8e\u5973\u5b69\u5728\u4e34\u5e8a\u4e0a\u56de\u5fc6\u8d77\u4e0e7q21q32\u5185\u591a\u79cd<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u76f8\u5173\u8054\u7684\u51e0\u79cd\u8868\u578b\uff0c\u901a\u8fc7\u6211\u4eec\u7684\u7ed3\u679c\u548c\u89c2\u5bdf\u8868\u660e\uff0c\u786e\u8ba4\u4e867q21.3q31.1\u5904\u91cd\u590d<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\/\u8868\u578b\u7684\u57fa\u56e0\u5185\u5bb9\u63d0\u4f9b\u4e00\u822c\u7684\u6982\u89c2\uff0cCUX1\u57fa\u56e0\u4ee5\u53caDLX5\u5f00\u59cb\u7684\u4e0b\u6e38\u7684\u6f5c\u5728\u7684\u8c03\u8282\u539f\u4ef6\u5728\u5185\u7684DLX\u57fa\u56e0\u8fdc\u4f4d\u7684\u5ea7\u4f4d\uff0c\u4e0e\u624b\u6307\u548c\u811a\u8dbe\u7578\u5f62\u65e0\u5173\u3002<\/p>\n\n\n\n<p class=\"has-text-align-right\">\u8457\u4f5c\u6743 2013 S. Karger AG, Basel<\/p>\n\n\n\n<hr class=\"wp-block-separator has-css-opacity\"\/>\n\n\n\n    <a href=\"\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u90e8\u5206\u6b20\u5931\u91cd\u8907\u306e\u691c\u67fb <\/div>\n          <div class=\"blog-card-excerpt\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u306f\u3001\u59d4\u8a17\u3059\u308b\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\u3067\u3001\u90e8\u5206\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3\u3082\u691c\u67fb\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3053\u3068\u306b\u4f34\u3044\u3001\u598a\u5a20\u304c\u5224\u660e\u3057\u305f\u65e9\u671f\u6bb5\u968e\u304b\u3089\u5168\u67d3\u8272\u4f53\u306e\u90e8...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u306f\u3058\u3081\u306b\"><span class=\"ez-toc-section\" id=\"%E5%BA%8F%E8%A8%80\"><\/span>\u5e8f\u8a00<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5148\u5929\u60277q\u7f3a\u5931<\/a>\u662f\u76f8\u5f53\u5e38\u89c1\u7684\uff0c\u4f46\u4e5f\u662f\u5f02\u8d28\u6027\u7684\u3002 \u8fd9\u4e9b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u4f5c\u4e3a\u5168\u4f53\u5305\u542b7q(DECIPHER\u6570\u636e\u5e93)\uff0c\u901a\u5e38\u5206\u7c7b\u4e3a\u8fd1\u7aef(q11\u219221)\u3001\u4e2d\u95f4(q21\u219231\/32)\u4ee5\u53ca\u672b\u7aef(q32\u2192qter)\uff0c[Gibson\u7b49\u30011982\u3001Young\u7b49\u30011984\u3001Chong\u7b49\u30012008]\u3002<\/p>\n\n\n\n<p>L.M.-J.\u4e0eC.C.-F.\u5bf9\u8fd9\u9879\u7814\u7a76\u7684\u8d21\u732e\u76f8\u540c\u30027q21q32\u6bb5\u5185\u7684\u5404\u79cd<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\uff0c\u5e38\u5e38\u5bfc\u81f4\u624b\u6307\u548c\u811a\u8dbe\u7578\u5f62\u548c\u591a\u79cd\u4e34\u5e8a\u7279\u5f81\uff0c\u5982\u667a\u529b\u969c\u788d\/\u53d1\u80b2\u8fdf\u7f13\u3001\u8033\/\u542c\u89c9\u5f02\u5e38\u3001\u4f4e\u51fa\u751f\u4f53\u91cd\u3001\u8fdb\u98df\u56f0\u96be\u3001\u5f02\u5e38\u54ed\u6ce3\u3001\u5c0f\u5934\u75c7\u3001\u5c0f\u989a\u7578\u5f62\u3001\u5fc3\u810f\u548c\u816d\u90e8\u7f3a\u9677\u3001\u53cd\u590d\u611f\u67d3\u3001\u5f02\u5e38\u7684\u624b\u638c\u76b1\u7eb9\u4ee5\u53ca\u773c\u775b\u5f02\u5e38[Young\u7b49\u30011984\u3001Riviera\u7b49\u30011991\u3001Scherer\u7b49\u30011994\u3001Montgomery\u7b49\u30012000\u3001Bernardini\u7b49\u30012008\u3001Chong\u7b49\u3001 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u533a\u57df\u7684\u660e\u663e\u91cd\u53e0\u4e0e\u8868\u578b\u7684\u4e00\u81f4\u6027\uff0c\u5b9e\u9645\u4e0a\u53ef\u80fd\u4ee3\u8868\u4e00\u79cd\u53ef\u8bc6\u522b\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931\u7efc\u5408\u75c7<\/a>[Fagan\u7b49 1989]\u3002 \u5728\u672c\u6587\u4e2d\uff0c\u6211\u4eec\u505a\u4e86\u4e00\u4e2a\u5b8c\u5584\u4e2d\u95f4(q21\u219231\/32)<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u76f8\u5173\u8054\u7684\u773c\u775b\u7684\u8868\u73b0\u578b\u7684\u56fe\u8c31\u5e76\u63d0\u4f9b\u8fdb\u4e00\u6b65\u7684\u6d1e\u5bdf\u529b\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">7q21.3q31.1\u7f3a\u5931<\/a>\u4ee5\u53ca\u5148\u5929\u6027\u4e25\u91cd\u9752\u5149\u773c(\u4e0d\u4f34\u6709\u624b\u6307\u548c\u811a\u8dbe\u7578\u5f62)\u7684\u62a5\u544a\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u60a3\u8005\u8a18\u8ff0\"><span class=\"ez-toc-section\" id=\"%E6%82%A3%E8%80%85%E8%AE%B0%E8%BF%B0\"><\/span>\u60a3\u8005\u8bb0\u8ff0<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u60a3\u8005\u662f\u4e00\u4e2a1\u5c81\u7684\u5973\u5b69\uff0c\u662f\u6ca1\u6709\u8840\u7f18\u5173\u7cfb\u7684\u7236\u6bcd\u6240\u751f\u7684\u7b2c2\u4e2a\u5b69\u5b50\u3002\u6ca1\u6709\u5f02\u5e38\u7684\u5bb6\u65cf\u75c5\u53f2\u3002 \u598a\u5a20\u665a\u671f\u53d1\u73b0\u80ce\u513f\u53d1\u80b2\u8fdf\u7f13\uff0c\u77ed\u80a1\u9aa8\u548c\u9aa8\u76c6\u77f3\u7070\u5316\uff0c\u7531\u4e8e\u80ce\u513f\u98ce\u9669\u589e\u52a0\uff0c\u5728\u598a\u5a2035\u5468\u65f6\u5256\u8179\u4ea7\u3002 \u51fa\u751f\u4f53\u91cd\u4e3a2,300g(&lt;3\u767e\u5206\u503c)\u3001\u8eab\u9ad843cm(&lt;3\u767e\u5206\u503c)\uff0c\u53ea\u63d0\u5230\u963f\u666e\u52a0\u8bc4\u5206\u4e3a8\u5206\uff08\u603b\u520610\u5206\uff09\u3002\u5148\u5929\u6027\u9752\u5149\u773c\u88ab\u8bca\u65ad\u51fa\u6765\u901a\u8fc72\u6b21\u6d41\u51fa\u9053\u91cd\u5efa\uff08\u5c0f\u6881\u5207\u5f00\u672f\u3001\u7ea4\u7ef4\u5207\u9664\u672f\uff09\u8fdb\u884c\u6cbb\u7597\u3002 \u75c5\u4eba\u7684\u773c\u538b\u4ecd\u7136\u5f88\u9ad8\u3002 \u5934\u90e8MRI\uff0c\u663e\u793a\u86db\u7f51\u819c\u4e0b\u8154\u6c34\u80bf\uff0c\u9aa8\u9ad3\u589e\u751f\u8fc7\u7a0b\u7684\u53d8\u5316\u548c\u53cc\u4fa7\u89c6\u795e\u7ecf\u6c34\u80bf\u3002 7\u4e2a\u6708\u5927\u65f6\uff0c\u5979\u7684\u4f53\u91cd\u662f4,300g(10\uff5e25\u767e\u5206\u503c)\uff0c\u8eab\u9ad857.3cm(&lt;3\u767e\u5206\u503c)\u3002 \u5979\u8868\u73b0\u4e3a\u773c\u775b\u5927\uff0c\u5de9\u819c\u5448\u84dd\u8272\uff0c\u773c\u7a9d\u5927\uff0c\u773c\u7a9d\u5f00\u653e\uff0c\u7709\u90e8\u7a81\u51fa\uff0c\u8033\u5ed3\u8fc7\u5ea6\u6298\u53e0\u8033\u5ed3\u4f4e\uff0c\u773c\u7751\u88c2\u5916\u7ffb\uff08\u6389\u773c\uff09\uff0c\u773c\u89d2\u5206\u79bb\u660e\u663e\uff0c\u9f3b\u5bbd\uff0c\u9f3b\u7ffc\u53d1\u80b2\u4e0d\u826f\uff0c\u9f3b\u7ffc\u53d1\u80b2\u4e0d\u5168\uff0c\u9f3b\u67f1\u77ed\uff0c\u4e24\u4fa7\u5355\u638c\u88c2\u548c\u4e24\u4fa7\u7b2c5\u6307\u5c16\u90e8\u4f4d(\u56fe1A)\u30fc\u30fc\u30fc\uff1e\u9f3b\u5e95\u4e0e\u4e0a\u5507\u57fa\u5e95\u548c\u4e2d\u7ebf\u5206\u79bb\uff0c\u5634\u5507\u8584\uff0c\u4e0a\u5507\u4e8c\u91cd\u5f13\u5f62\uff08\u7ebf\uff09\uff0c\u8f6f\u816d\u88c2\uff0c\u5c0f\u988c\u75c7\uff0c\u4e24\u4fa7\u7334\u7eb9\uff0c\u4e24\u4fa7\u7b2c5\u6307\u5c16\u90e8\u4fa7\u65b9\u5f2f\u66f2\uff0c(\u56fe1A) \u53e6\u5916\uff0c\u8fd8\u6709\u5375\u5706\u5b54\u5f00\u653e\uff0c\u52a8\u8109\u7ba1\u5f00\u653e\u548c\u4e09\u5c16\u74e3\u53cd\u6d41\u3002\u57281\u5c81\u65f6\uff0c\u8fd8\u6ca1\u6709\u9888\u5b9a\u3002&nbsp; \u5bf9\u542c\u89c9\u523a\u6fc0\u7684\u53cd\u5e94\u5f88\u5f31\uff0c\u4f46\u5979\u5bf9\u5149\u7684\u523a\u6fc0\u6709\u53cd\u5e94\u3002 \u7259\u9f7f\u6ca1\u6709\u53d1\u80b2\uff0c\u54ed\u58f0\u5fae\u5f31\uff0c\u4f53\u91cd\u3001\u8eab\u9ad8\u548c\u524d\u540e\u5934\u5f84\u5468\u957f\u5206\u522b\u4e3a5,500g(\u4e0d\u6ee13\u767e\u5206\u503c)\u300167.5cm(&lt;3\u767e\u5206\u503c\u300142cm(&lt;3\u767e\u5206\u503c)\u3002 \u773c\u79d1\u68c0\u67e5\u53d1\u73b0\u773c\u7403\u7a81\u51fa\uff0c\u773c\u538b\u5347\u9ad8\uff0c\u84dd\u8272\u5de9\u819c\uff0c\u89d2\u819c\u6d51\u6d4a\u4f34\u968f\u89d2\u819c\u6c34\u80bf\u4e3a\u7279\u5f81\u7684\u4e24\u4fa7\u539f\u53d1\u6027\u5148\u5929\u6027\u9752\u5149\u773c\u3002 \u5305\u62ec\u8679\u819c\u5728\u5185\u7684\u8461\u8404\u819c\u7ed3\u6784\u663e\u7136\u662f\u6b63\u5e38\u7684\uff0c\u4f46\u4e0d\u77e5\u9053\u5b83\u4eec\u662f\u5426\u88ab\u690d\u5165\u8679\u819c\u5e76\u4ece\u8679\u819c\u8840\u7ba1\u83b7\u5f97\u8840\u6d41\u3002 \u75c5\u4eba\u76ee\u524d\u6b63\u5728\u4ece\u9891\u7e41\u7684\u547c\u5438\u9053\u611f\u67d3\u4e2d\u6062\u590d\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u6750\u6599\u304a\u3088\u3073\u65b9\u6cd5\"><span class=\"ez-toc-section\" id=\"%E6%9D%90%E6%96%99%E5%92%8C%E6%96%B9%E6%B3%95\"><\/span>\u6750\u6599\u548c\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u67d3\u8272\u4f53\u5206\u6790<\/strong><br>\u5bf9\u60a3\u8005\u53ca\u5176\u7236\u6bcd\u7684\u521d\u6b65\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\uff0c\u662f\u572872\u5c0f\u65f6\u6dcb\u5df4\u7ec6\u80de\u57f9\u517b\u5f97\u5230\u7684GTG\u5e26\u7684\u4e2d\u671f\u67d3\u8272\u4f53\u4e0a\u8fdb\u884c\u7684\u3002 \u5728informed consent\u7684\u60c5\u51b5\u4e0b\uff0c\u4ece\u60a3\u8005\u548c\u5bb6\u957f\u90a3\u91cc\u8fdb\u4e00\u6b65\u63d0\u53d6\u7684\u8840\u6db2\u6837\u672c\uff0c\u88ab\u7528\u4e8e\u5206\u5b50\u7814\u7a76\u3002<\/p>\n\n\n\n<p><strong>\u9635\u5217CGH<\/strong><br>\u9996\u5148\uff0c\u60a3\u8005\u53ca\u5176\u7236\u6bcd\u7684\u57fa\u56e0\u7ec4DNA\uff0c\u901a\u8fc7\u4f7f\u7528Qiagen Gentra\u00ae Puregene Blood core Kit\u4ece3ml\u7684\u672b\u68a2\u8840\u4e2d\u5f97\u5230\u3002\u4e2d\u5bc6\u5ea6\u5fae\u9635\u5217\u5206\u6790\uff0c\u4f7f\u7528Agilent SurePrint G3 Hmn CGH+SNP 4x180K\u5fae\u9635\u5217\u8bd5\u5242\u76d2(\u4e2d\u592e\u503c25kb\u7684\u95f4\u9694\u6709\u7ea6120,000\u4e2a\u7684CGH\u63a2\u9488\u548c60,000\u4e2a\u7684SNP\u63a2\u9488)\u8fdb\u884c\u5b9e\u65bd\u3002 \u7b80\u5355\u5730\u8bf4\uff0c\u60a3\u8005\u548c\u4ed6\u7684\u7236\u6bcd\u548c\u6027\u522b\u5339\u914d\u7684\u5bf9\u7167\u7ec4\u7684\u57fa\u56e0\u7ec4DNA(\u7ea61mg)\uff0c\u752837\u21032\u5c0f\u65f6\uff0cAluI\u4ee5\u53caRsaI\u9650\u5236\u6027\u9176(Promega, Madison, Wisc, USA)\u6765\u6d88\u5316\uff0c\u6d88\u5316\u7684\u751f\u6210\u7269\uff0c\u7528Sure tag DNA\u6807\u8bb0\u8bd5\u5242\u76d2(Agilent Technologies)\uff0c\u5bf9Cy3-dU \u6807\u8bb0\u7684\u751f\u6210\u7269\uff0c\u6309\u7167Agilent\u7684\u534f\u8bae\u8fdb\u884c\u7eaf\u5316\u3001\u6742\u4ea4\u548c\u6d17\u6da4\u3002 \u5404\u73bb\u7247\u5728Nimblegen MS 200\u626b\u63cf\u4eea(Roche)\u4e0a\u626b\u63cf\uff0c\u6240\u5f97\u56fe\u50cf\u7528\u56fe\u50cf\u8f6c\u6362\u8f6f\u4ef6\u8fdb\u884c\u8f6c\u6362\uff0c\u5e76\u7528Feature Extraction\u8f6f\u4ef6(Agilent\u79d1\u6280)\u8fdb\u884c\u6210\u50cf\u3002 \u7ed3\u679c\uff0c\u4f7f\u7528Agilent Cytogenomics\u8f6f\u4ef6v.2.5\u7684ADM-2\u7578\u53d8\u7b97\u6cd5\uff0c\u9ed8\u8ba4\u5206\u6790\u65b9\u6cd5-CGH+SNP v2\u8fdb\u884c\u5206\u6790\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u7d50\u679c\"><span class=\"ez-toc-section\" id=\"%E7%BB%93%E6%9E%9C\"><\/span>\u7ed3\u679c<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u60a3\u8005\u7684G\u5e26\u6838\u578b\u4e3a46,XX,del(7)(q22q22)dn\uff0c\u7236\u6bcd\u6838\u578b\u6b63\u5e38\u3002 \u76f8\u5e94\u7684\u5fae\u9635\u5217\u68c0\u6d4b\u663e\u793a\uff0c\u5305\u62ec500\u7684\u6807\u8bb0\u548c229\u7684\u57fa\u56e0(miRNA\u4ee5\u53ca\u865a\u62df\u86cb\u767d\u8d28)\u5728\u5185\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>12.5-Mb\u9886\u57df(\u57fa\u56e0\u7ec4\u4f4d\u7f6e96,742,140-109,246,085)\uff0cACN9\u7684\u8fd1\u4f4dC7orf66\u7684\u8fdc\u4f4d(GRCh37\/hg19)\uff1b\u56e0\u6b64\uff0c\u5bf9\u4e8e7q21.3q31.1\u7684\u90e8\u5206\u5355\u500d\u4f53\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u6307\u5f62\u8d28\u7684\u5173\u952e\u9886\u57df[Scherer\u4ed6\u30011994]\u91cd\u5408\uff0c\u4f5c\u4e3a\u8fd9\u6837\u7684\u4e34\u5e8a\u7279\u5f81\u7684\u4e3b\u8981\u5907\u9009\u7684DLX5\u4ee5\u53caDLX6\u57fa\u56e0\u4e0d\u542b\u5728\u5185\u3002 \u6ca1\u6709\u89c2\u5bdf\u5230\u5176\u4ed6\u660e\u663e\u7684\u57fa\u56e0\u7ec4\u6539\u53d8\u3002 \u7236\u6bcd\u7684\u5fae\u9635\u5217\u7ed3\u679c\u662f\u6b63\u5e38\u7684\u3002 \u60a3\u8005\u6700\u7ec8\u7684\u6838\u578b\u4e3a46,XX.arr 7q21.3q31.1(96,742,140\uff5e109,246,085)\u00d71dn\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u8003\u5bdf\"><span class=\"ez-toc-section\" id=\"%E8%80%83%E5%AF%9F\"><\/span>\u8003\u5bdf<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5728\u8fd9\u9879\u7814\u7a76\u4e2d\uff0c\u6211\u4eec\u62a5\u544a\u4e86\u5168\u7403\u7b2c4\u4f8b\uff0c\u5305\u62ec\u6216\u91cd\u590d\u7684\u4e8eq21.3q31.1\u9886\u57df\u4e0e\u51fa\u751f\u65f6\u4f34\u968f\u65b0\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u6709\u5173\u7684\u5148\u5929\u6027\u9752\u5149\u773c\u60a3\u8005\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"722\" height=\"376\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/7q21.3-31-a.jpg\" alt=\"\" class=\"wp-image-17909\"\/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"722\" height=\"878\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/7q21.3-31-b.png\" alt=\"\" class=\"wp-image-17912\"\/><\/figure>\n\n\n\n<p><strong>\u56fe1 <\/strong><br><strong>A<\/strong> \u9885\u9762\u3001\u624b\u3001\u53e3 \u60a3\u8005\u7684\u7279\u5f81\u3002<br><strong>B<\/strong> \u60a3\u8005\u7279\u5f81 log 2 ratio\u663e\u793a\uff08\u56fe\u548c\u7ebf\uff09\u8868\u793a\u3002\u8f6f\u4ef6v.2.5\u8fdb\u884c\u53ef\u89c6\u5316\u3002<br><strong>C<\/strong> \u56fe\uff08\u975e\u6bd4\u4f8b \u773c\u7403\u6709\u5f02\u5e38\u60c5\u51b5\u548c\u65e0\u5f02\u5e38\u60c5\u51b5\uff0c\u4ee5\u53ca7q21.3q31.1\u91cd\u590d\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">7q\u7f3a\u5931<\/a>\u7684\u643a\u5e26\u8005\u3002\u663e\u793a7q21.3q31.1\u91cd\u590d\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">7q\u7f3a\u5931<\/a>\u7684\u643a\u5e26\u8005\u3002\u8fd9\u4e9b\u67d3\u8272\u4f53\u7578\u53d8\u4e2d\u7684\u5927\u591a\u6570\u6ca1\u6709\u7ecf\u8fc7\u5206\u5b50\u9610\u8ff0\uff0c\u56e0\u6b64\u6211\u4eec\u4ece\u6700\u521d\u5206\u914d\u7684\u65ad\u70b9\u4e2d\u8fd1\u4f3c\u5730\u627e\u51fa\u6700\u521d\u5206\u914d\u7684\u65ad\u70b9\uff08\u6362\u53e5\u8bdd\u8bf4\uff0c\u6211\u4eec\u628a\u65ad\u70b9\u653e\u5728\u5e26\u7684\u8fd1\u7aef\u6216\u8fdc\u7aef)\u3002<br><br>\u5f53\u524d\u6848\u4f8b\u300d\u4e0b\u9762\u7684\u6848\u4f8b\uff0cDECIPHER\u7684\u6848\u4f8b\u4e2d\uff0c\u4e0e\u8fd9\u4e00\u6b21\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u5927\u4f53\u4e0a\u76f8\u91cd\u5408\u3002\u4e0e\u5f53\u524d\u7684\u5220\u9664\u91cd\u5408\u3002\u5782\u76f4\u84dd\u7ebf\uff0c\u8868\u793a\u6f5c\u5728\u7684\u6700\u5c0f\u773c\u7403\u5f02\u5e38\u533a\u57df\u3002\u8868\u793a\u6f5c\u5728\u7684\u773c\u7403\u5f02\u5e38\u7684\u6700\u5c0f\u533a\u57df\u3002\u6700\u521d\u7684\u84dd\u7ebf\uff08\u5de6\uff09\u548c\u865a\u7ebf\u8868\u793a\uff0c\u4e0e\u6211\u4eec\u7684\u6848\u4f8b\u91cd\u590d\u7684\u533a\u57df\u3002\u7070\u8272\u7ebf\u6761\u7528\u7070\u8272\u5212\u5b9a\u4e86\u4e00\u4e9b\u91cd\u590d\u7684\u533a\u57df\u3002* \u5728\u8fd9\u4e2a\u75c5\u4f8b\u4e2d\uff0c\u65e2\u6ca1\u6709\u773c\u7403\u5f02\u5e38\uff0c\u4e5f\u6ca1\u6709\u62c7\u6307\u5916\u7ffb\u7684\u62a5\u544a\u3002\u662f7q21q31\uff09\u3002* * \u4e0d\u6b63\u786e\u7684\u65ad\u70b9 (\u6ca1\u6709\u62c7\u6307\u5916\u7ffb)\u3002? = \u4e0d\u660e\u773c\u7403\u5f02\u5e38 \u6ca1\u6709\u5bf9\u80ce\u513f\u8fdb\u884c\u5256\u68c0\uff0c\u6240\u4ee5\u5bf9\u773c\u7403\u7684\u5f71\u54cd\u662f\u672a\u77e5\u7684\u3002<\/p>\n\n\n\n<p><strong>D<\/strong> UCSC\u6d4f\u89c8\u622a\u56fe DECIPHER\u4e0eISCA\u4e2d\u62a5\u544a\u7684\u6240\u6709\u4e0d\u5e73\u8861\u6848\u4f8b\uff0c DECIPHER\u4e0eISCA\u62a5\u544a\u76847q21.3q31.1\u9886\u57df\u91cd\u590d\uff0c 7q21.3q31.1\u9886\u57df\u91cd\u590d\uff0c\u5305\u542bDECIPHER\u4e0eISCA\u4e2d\u62a5\u544a\u7684\u6240\u6709\u4e0d\u5e73\u8861\u6848\u4f8b\u7684\u6d4f\u89c8\u622a\u56fe\uff08\u7ea2\uff1d\u7f3a\u5931\u3002\u84dd\u662f\u589e\u5e45\uff09\u3002) ISCA\u76842\u4e2a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a> (ID\u662fnssv578163\u4e0enssv582318\u3002) \u770b\u4f3c\u5b8c\u5168\u8de8\u8d8a7q21.3q31.1\u9886\u57df\uff0c\u4f46\u5b9e\u9645\u4e0a\u5bf9\u5e94\u7684\u662f7\u53f7\u67d3\u8272\u4f53\u7684\u5355\u500d\u4f53\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"\u88681-7q21q32\u5185\u3067\u5831\u544a\u3055\u308c\u305f\u6b20\u5931\u75c7\u4f8b\u304b\u3089\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3067\u3042\u308b\u304c-7q21-3q31-1\u9818\u57df\u3068\u660e\u3089\u304b\u306b\u91cd\u8907\u3057\u3066\u3044\u308b\"><span class=\"ez-toc-section\" id=\"%E8%A1%A81_%E4%BB%8E7q21q32%E4%B8%AD%E6%8A%A5%E5%91%8A%E7%9A%84%E7%9A%84%E7%BC%BA%E5%A4%B1%E7%97%85%E4%BE%8B%E6%98%8E%E7%A1%AE%E4%B8%B4%E5%BA%8A%E7%89%B9%E5%BE%81%EF%BC%8C%E4%B8%8E7q213q311%E9%A2%86%E5%9F%9F%E6%98%8E%E6%98%BE%E9%87%8D%E5%8F%A0\"><\/span><strong>\u88681. \u4ece7q21q32\u4e2d\u62a5\u544a\u7684\u7684\u7f3a\u5931\u75c5\u4f8b\u660e\u786e\u4e34\u5e8a\u7279\u5f81\uff0c\u4e0e7q21.3q31.1\u9886\u57df\u660e\u663e\u91cd\u53e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<section class=\"note_table\">\n<div class=\"table-sp-scroll\">\n<table>\n<thead>\n<tr>\n<th>\u4e34\u5e8a\u7279\u5f81<\/th><th colspan=\"18\">\u6848\u4f8b\/\u53c2\u8003\u6587\u732e<\/th>\n<\/tr>\n<tr>\n<th><\/th><th>1<\/th><th>2<\/th><th>3<\/th><th>4<\/th><th>5<\/th><th>6<\/th><th>7<\/th><th>8<\/th><th>9<\/th><th>10<\/th><th>11<\/th><th>12<\/th><th>13<\/th><th>14<\/th><th>15*<\/th><th>16<\/th><th>17<\/th><th>\u8fd9\u6b21\u7684\u6848\u4f8b<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr><td colspan=\"19\">\u4e00\u822c<\/td><\/tr>\n<tr><td>\u4f4e\u51fa\u751f\u4f53\u91cd\u513f<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>ID\/DD<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+a<\/td><td>+<\/td><td>+<\/td><td>+?<\/td><td>+b<\/td><td>+<\/td><td>+<\/td><td>+<\/td><\/tr>\n<tr><td colspan=\"19\">\u751f\u957f\u8fdf\u7f13\/\u8eab\u6750\u77ee\u5c0f<\/td><\/tr>\n<tr><td>\u8eab\u9ad8<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u8bed\u8a00\u5ef6\u8fdf<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>?<\/td><td>+<\/td><\/tr>\n<tr><td>\u6027\u4f4e\u8840\u538b<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u8111\u6ce2\u5f02\u5e38\/\u53d1\u4f5c<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><\/tr>\n<tr><td>\u518d\u53d1\u6027\u611f\u67d3\u75c7<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013?<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013?<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td colspan=\"19\">\u5934\u90e8\/\u773c\u7a9d<\/td><\/tr>\n<tr><td>\u5468\u56f4\u7684\u5927\u8303\u56f4\/\u663e\u8457\u7684\u989d\u5934<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u5c0f\u5934\u75c7<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><\/tr>\n<tr><td>\u5411\u4e0a\u7684\u503e\u659c<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u8868\u60c5\u808c\u7684\u8936\u76b1<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>NA<\/td><\/tr>\n<tr><td>\u9686\u8d77\u7684\u7709\u6bdb<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>Hypertelorism\/\u773c\u89d2\u5f00\u79bb<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013?<\/td><td>+<\/td><td>apparently<\/td><\/tr>\n<tr><td colspan=\"19\">\u8033\u30fb\u542c\u529b<\/td><\/tr>\n<tr><td>Low set<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><\/tr>\n<tr><td>\u7578\u5f62<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u542c\u89c9\u969c\u788d\u30fb\u542c\u529b\u969c\u788d<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013?<\/td><td>\u2013<\/td><td>apparently<\/td><\/tr>\n<tr><td colspan=\"19\">\u9f3b<\/td><\/tr>\n<tr><td>\u6241\u5e73\/\u5bbd\u9f3b\u6881<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><\/tr>\n<tr><td>\u7403\u6839\u72b6\u7684\u9f3b\u5c16<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u773c\u7403\u7684\u5f02\u5e38<\/td><td>+<\/td><td>+<\/td><td>G<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>G<\/td><td>+<\/td><td>+<\/td><td>G<\/td><td>?<\/td><td>\u2013?<\/td><td>\u2013<\/td><td>G<\/td><\/tr>\n<tr><td colspan=\"19\">\u53e3<\/td><\/tr>\n<tr><td>\u5927<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><\/tr>\n<tr><td>\u8584\u4e0a\u5507<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>?<\/td><td>?<\/td><td>\u2013<\/td><td>?<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u957f\u4eba\u4e2d<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>apparently<\/td><\/tr>\n<tr><td>\u816d\u88c2\u30fb\u9ad8\u816d\u30fb\u7a84\u816d<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u5c0f\u988c\u75c7<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u9888\u90e8\u8425\u517b\u969c\u788d<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>mildc<\/td><\/tr>\n<tr><td colspan=\"19\">\u9888\u90e8<\/td><\/tr>\n<tr><td>\u77ed<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<sup>d<\/sup><\/td><td>\u2013<\/td><td>\u2013<\/td><\/tr>\n<tr><td colspan=\"19\">\u56db\u80a2\u30fb\u624b<\/td><\/tr>\n<tr><td>\u7b2c5\u6307\u7684\u65e0\u6307\u75c7<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>mild<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><\/tr>\n<tr><td>\u5206\u88c2\u624b\u6307\/\u5206\u88c2\u8db3<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><\/tr>\n<tr><td>\u638c\u5e95\u76b1\u7eb9\u5f02\u5e38<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td colspan=\"19\">\u5fc3\u8840\u7ba1<\/td><\/tr>\n<tr><td>ASD\/VSD<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><\/tr>\n<tr><td>PDA<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><\/tr>\n<tr><td>\u80ba\u52a8\u8109\u72ed\u7a84<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><\/tr>\n<tr><td>\u5176\u4ed6<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<sup>e<\/sup><\/td><\/tr>\n<tr><td colspan=\"19\">\u6d88\u5316\u9053<\/td><\/tr>\n<tr><td>\u759d\u6c14 <\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><\/tr>\n<tr><td colspan=\"19\">\u6ccc\u5c3f\u7cfb\u7edf<\/td><\/tr>\n<tr><td>\u6027\u5668\u5f02\u5e38<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>+<\/td><td>\u2013<\/td><td>\u2013<\/td><\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n<\/section>\n\n\n\n<p><sup>1<\/sup> Ayraud et al. [1976]; <sup>2<\/sup> Higginson et al. [1976]; <sup>3<\/sup> Dennis\u7b49 [1977]; <sup>4<\/sup> Hull et al. [1979]; <sup>5<\/sup> Klep-de Pater et al. [1979]; <sup>6<\/sup> Serup [1980]; <sup>7<\/sup> Abuelo and Padre-Mendoza [1982]; <sup>8<\/sup> Young\u7b49 [1984]; <sup>9<\/sup> Chitayat et al. [1988]; <sup>10<\/sup> Fagan et al. [1989]; <sup>11<\/sup> Franceschini et al. [1978]; <sup>12<\/sup> Tajara et al. [1989]; <sup>13<\/sup> Morey and Higgins [1990]; <sup>14<\/sup> Montgomery et al. [2000]; <sup>15<\/sup> Cheong et al. [2008]; <sup>16<\/sup> ID 253694; <sup>17<\/sup> ID 255298.<br><br>ID\/DD = \u667a\u529b\u969c\u788d\/\u53d1\u80b2\u8fdf\u7f13\u3002 NA = \u4e0d\u53ef\u7528\u3002 G = \u9752\u5149\u773c\u3002 ? =\u672a\u77e5\/\u4e0d\u6b63\u786e\u3002<br><br>22\u5468\u5206\u5a29\u7684\u80ce\u513f\uff0c\u9664\u4e86\u4ee5\u4e0a\u65e0\u6cd5\u8fdb\u884c\u8fdb\u4e00\u6b65\u8bc4\u4f30\u3002 <sup>a<\/sup> \u6211\u4eec\u63d0\u6848\u7684\uff08\u65e9\u671f\u6b7b\u4ea1\uff09\u3002 <sup>b<\/sup> \u4f5c\u8005\u63d0\u6848\u7684\uff08\u65e9\u671f\u6b7b\u4ea1\uff09\u3002 <sup>c<\/sup> \u6700\u521d\u7684\u5438\u9644\u5f88\u5dee\u3002 <sup>d<\/sup> \u8be5\u60a3\u8005\u51fa\u73b0\u624b\u90e8\u524d\u591a\u6307\u75c7\u3002<\/p>\n\n\n\n<p>\u5728\u8fd9\u6b21\u62a5\u544a\u540e\uff0c\u4e00\u4e2a24\u5468\u5927\u7684\u80ce\u513f\u51fa\u73b0\u4e86\u4e0e\u4f5c\u8005\u7684\u75c5\u4f8b\u975e\u5e38\u76f8\u4f3c\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\uff0c\u8868\u73b0\u4e3a\u53e3\u5507\u88c2\u548c\u53e3\u816d\u88c2\u3001\u9ad8\u8272\u7d20\u75c7\u3001\u6241\u5e73\u7684\u9f3b\u6881\u3001\u5c0f\u988c\u7578\u5f62\u3001\u4f4e\u8033\u4f4d\u3001\u5c0f\u9634\u830e\u4ee5\u53ca\u9690\u777e[Chen\u7b49 2013]\u3002 \u5728\u6b64\u8868\u4e2d\uff0c\u8d85\u8fc730%\u7684\u75c5\u4f8b\u5177\u6709\u4ee5\u4e0b\u7279\u5f81\u3001ID\/DD(~18\/18)\u3001\u773c\u7578\u5f62(12\/18)\u3001\u4f4e\u51fa\u751f\u4f53\u91cd(10\/18)\u3001\u8033\u7578\u5f62(10\/18)\u3001\u5fc3\u810f\u7578\u5f62(9\/18)\u3001\u5927\u53e3(9\/18)\u3001\u8fdb\u98df\u969c\u788d(9\/18)\u3001\u4f4e\u8033(8\/18)\u3001\u751f\u957f\u8fdf\u7f13\/\u8eab\u6750\u77ee\u5c0f(8\/18)\u3001\u808c\u5f20\u529b\u4f4e\u4e0b(6\/18)\u3001\u5c0f\u5934\u7578\u5f62(6\/18)\u3001\u5c0f\u4e0b\u989a \u300c\u54ed\u58f0\u5fae\u5f31\u300d\u6216\u300c\u54ed\u58f0\u5f02\u5e38\u300d\u7684\u7279\u5f81\uff0c\u6ca1\u6709\u5305\u62ec\u5728\u672c\u8868\u4e2d\uff0c\u4f46\u5305\u62ec\u672c\u8868\u5728\u5185\u7684\u5927\u7ea65\u540d\u60a3\u8005\u3002<\/p>\n\n\n\n<p>(\u56fe1C\u3001\u88681)\u663e\u793a\u3002 \u4f5c\u8005\u7684\u7ed3\u679c\u8868\u660e\uff0c\u5728\u8be5\u533a\u57df\u6620\u5c04\u7684\u81f3\u5c113\u4e0e\u773c\u775b\u76f8\u5173\u7684\u57fa\u56e0\u4f4d(TAC1\u3001CYP3A43\u53caHBP1)\u7684\u5171\u540c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u53ef\u4ee5\u89e3\u91ca\u9752\u5149\u773c\u548c\u5176\u4ed6\u773c\u90e8\u5f02\u5e38\u3002<br><br>\u9752\u5149\u773c\u662f\u4e00\u79cd\u4e34\u5e8a\u548c\u9057\u4f20\u4e0a\u7684\u5f02\u8d28\u6027\u75be\u75c5\uff0c\u5176\u7279\u70b9\u662f\u89c6\u7f51\u819c\u795e\u7ecf\u8282\u7ec6\u80de\u4e27\u5931\u548c\u89c6\u795e\u7ecf\u840e\u7f29[Izotti\u7b49 2011; Mookherjee et al., 2012]\u3002 \u773c\u538b\u5347\u9ad8\u7684\u4e3b\u8981\u4e34\u5e8a\u6807\u51c6\u901a\u5e38\u662f\u7531\u4e8e\u776b\u72b6\u4f53\u7f51\u72b6\u7ed3\u6784\u5bf9\u6c34\u6db2\u7684\u963b\u529b\u6240\u81f4[Kennedy\u7b49 2012]\u3002 \u89d2\u819c\u7f51\u72b6\u7ed3\u6784\u4f4d\u4e8e\u89d2\u819c\u5e95\u90e8\u5468\u56f4\uff0c\u5728\u8c03\u8282\u6c34\u6db2\u6d41\u51fa\u65b9\u9762\u53d1\u6325\u7740\u91cd\u8981\u4f5c\u7528[Izotti\u7b49 2011]\u3002 \u5728\u5148\u5929\u6027\u9752\u5149\u773c\u60a3\u8005\u4e2d\uff0c\u7ecf\u5e38\u89c2\u5bdf\u5230\u776b\u72b6\u4f53\u7f51\u72b6\u7ed3\u6784\u7684\u6539\u53d8\u3002 \u5148\u5929\u6027\u9752\u5149\u773c\u3001\u89d2\u819c\u6df7\u6d4a\u3001\u539f\u53d1\u6027\u5f00\u89d2\u578b\u9752\u5149\u773c\u548c\u9752\u5c11\u5e74\u5f00\u89d2\u578b\u9752\u5149\u773c\u662f\u9752\u5149\u773c\u7684\u4e00\u4e9b\u4e9a\u578b\uff0c\u4e0eGLC1A\u6216\u306fMYOC(1q24.3)\u3001CYP1B1(2p22.2)\u3001\u4ee5\u53caCAV1\/CAV2(7q31.2)[Stoilov et al.\u30011997;Alward et al.\u30011998;Thorleifsson et al.\u30012010;Kennedy\u7b49\u30012012;<br><br>CYP1B1\u57fa\u56e0\u4e0e\u521d\u7ea7\u540c\u6e90\u7269\u6709\u5173<br><br>\u5177\u6709\u7ec6\u80de\u8272\u7d20P450\u4f9d\u8d56\u6027\u4ee3\u8c22\u7269\u7684\u9752\u5149\u773c(OMIM 231300)\uff0c\u53ef\u8c03\u8282\u89d2\u819c\u900f\u660e\u5ea6\u548c\u623f\u6c34\u5206\u6ccc\u3002 \u6b64\u5916\uff0cCYP1B1\u88ab\u4e0b\u8c03\uff0c\u5728\u5177\u6709\u53d8\u5f02\u7684MYOC\u57fa\u56e0\u7684\u4eba\u7c7b\u5c0f\u67f1\u7f51\u7ec6\u80de\u4e2d\uff0cCYP26B1\u88ab\u4e0a\u8c03[Kennedy\u7b49\u30012012]\u3002 \u8fd9\u4e9b\u4e8b\u5b9e\u8868\u660e\uff0c\u7ec6\u80de\u8272\u7d20P450s\u5bb6\u65cf\u4e2d\u7684\u5176\u4ed6\u57fa\u56e0\u4e5f\u53ef\u80fd\u53c2\u4e0e\u5176\u4e2d\u3002 \u4e8b\u5b9e\u4e0a\uff0c\u4f4d\u4e8e7q22.1(CYP3A4\u3001CYP3A5\u3001CYP3A7\u3001CYP3A43)\u7684\u7ec6\u80de\u8272\u7d20\u662fP450\u5c0f\u89c4\u6a21\u7684\u57fa\u56e0\u7fa4\u3002<br>\u4e8b\u5b9e\u4e0a\uff0c\u5728\u6211\u4eec\u7684\u60a3\u8005\u4e2d\uff0c\u5927\u591a\u6570\u4e0e\u9752\u5149\u773c\u3001\u89d2\u819c\u6df7\u6d4a\u3001\u5de8\u5927\u89d2\u819c\u3001\u6216\u77b3\u5b54\u5f02\u5e38\u7b49\u5176\u4ed6\u773c\u90e8\u5f02\u5e38\u76f8\u5173\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">7q\u7684\u7f3a\u5931<\/a>\uff0c\u90fd\u6d89\u53caq22\uff0c\u5e76\u4e14\u53ef\u80fd\u6d89\u53caCYP\u57fa\u56e0[Young\u7b49\u30011984;Montgomery\u7b49\u30012000]\u3002 \u503c\u5f97\u6ce8\u610f\u7684\u662f\uff0cCYP3A43\u88ab\u53d1\u73b0\u5728\u4eba\u7c7b\u89d2\u819c\u4e0a\u76ae\u7ec4\u7ec7\u4e2d\u6709\u4e0d\u540c\u7684\u8868\u8fbe[Turner\u7b49 2007]\u3002 \u4e00\u822c\u6765\u8bf4\uff0c\u4e9a\u5bb6\u65cf3A\u7684\u6210\u5458\u88ab\u53d1\u73b0\u5728\u4eba\u7c7b\u8679\u819c\u3001\u776b\u72b6\u4f53\u548c\u89d2\u819c\u4e2d\u8868\u8fbe[Chan\u7b49\u30012008;Volotinen\u7b49\u30012011]\u3002 \u53e6\u4e00\u4e2a\u9752\u5149\u773c\u7684\u5019\u9009\u57fa\u56e0\u4f3c\u4e4e\u662fTAC1\uff0c\u8fd9\u5728\u6211\u4eec\u7684\u75c5\u4eba\u4e2d\u4e5f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\uff0c\u6700\u8fd1\u88ab\u8ba4\u4e3a\u662f\u9752\u5149\u773c\u635f\u4f24\u7684\u6f5c\u5728\u751f\u7406\u751f\u7269\u6807\u5fd7\u7269\u3002 TAC1\u57fa\u56e0\uff0c\u4e0eMYOC\u57fa\u56e0\u7684\u529f\u80fd\u901a\u8def\u76f8\u5173\u3002MYOC\u57fa\u56e0\uff0c\u662f\u4e00\u79cd\u7531\u7ed3\u8282\u7f51\u7edc\u7684\u538b\u529b\u6761\u4ef6\u8bf1\u5bfc\u7684\u7cd6\u86cb\u767d\u3002\u4e8b\u5b9e\u4e0a\uff0cTAC1\u7684\u8868\u8fbe\u5728MYOC\u7a81\u53d8\u4f53\u7ec6\u80de\u4e2d\u4e5f\u6709\u5f3a\u70c8\u6539\u53d8[Kennedy\u7b49 2012]\u3002 TAC1\u57fa\u56e0(7q21.3)\u662fprecur-\u7f16\u7801\u3002<br><br>\u4f5c\u4e3a\u795e\u7ecf\u9012\u8d28\u7684\u6fc0\u7d20Saul(UCSC\u57fa\u56e0\u7ec4\u6d4f\u89c8)\uff0c\u5df2\u88ab\u786e\u5b9a\u4e3a\u4eba\u7c7b\u7ea4\u7ef4\u8840\u7ba1\u67f1\u7f51\u72b6\u7ed3\u6784\u4e2d\u7684\u673a\u68b0\u654f\u611f\u57fa\u56e0[Kennedy\u7b49 2012]\u3002<br><br>\u8be5\u60a3\u8005\u7684\u53e6\u4e00\u4e2a\u57fa\u56e0\u4e5f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\uff0c\u5373HBP1\uff0c\u662f\u4e00\u4e2a\u53c2\u4e0eWNT\u9014\u5f84\u7684\uff0c\u5728\u89c6\u7f51\u819c\u3001\u89d2\u819c\u548c\u776b\u72b6\u4f53\u4e2d(EMBL-EBI\u53caGeneCards\u57fa\u7840\u6570\u636e)\u8868\u8fbe\u7684\u8f6c\u5f55\u6291\u5236\u5668\u3002 WNT\u9014\u5f84\u4e0e\u773c\u538b\u8c03\u8282\u6709\u5173[Kennedy\u7b492012]\u3002\u540c\u65f6\uff0cHBP1(\u9ad8\u8fc1\u79fb\u7387\u7ec4\u6846\u8f6c\u5f55\u56e0\u5b50)\u57fa\u56e0\uff0c\u662f\u5df2\u77e5\u7684\u89c6\u7f51\u819c\u635f\u4f24\u548c\u708e\u75c7\u5e94\u6fc0\u4fe1\u53f7\u4f20\u5bfc\u7684\u5185\u6e90\u6027\u5206\u5b50\uff0c\u4e0eHMGB1(\u9ad8\u8fc1\u79fb\u7387\u7ec4\u68461\u86cb\u767d\u8d28)\u662f\u540c\u6837\u7684[Lee\u7b49\u30012012]\u3002<\/p>\n\n\n\n<p>\u5c3d\u7ba1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">7q21q32\u7f3a\u5931\u75c7<\/a>\u7684\u8868\u578b\u662f\u591a\u6837\u7684\uff0c\u4f46\u5df2\u89c2\u5bdf\u5230\u51e0\u4e2a\u53cd\u590d\u51fa\u73b0\u7684\u4e34\u5e8a\u7279\u5f81\uff08\u88681\uff09\u3002\u6839\u636e\u88681\u4e2d\u83b7\u5f97\u7684\u4fe1\u606f\uff0c\u81f3\u5c11\u670914\u4e2a\u7279\u5f81\u5728\u60a3\u8005\u4e2d\u53d1\u73b0\uff0c\u5176\u9891\u7387\u8d85\u8fc730\uff05\u4ee5\u4e0a\uff08\u88681\uff09\u3002\u4f8b\u5982\uff0c\u8fd9\u4e2a\u5b69\u5b50\uff0c\u81f3\u5c11\u8868\u73b0\u51fa11\u79cd\u8fd9\u4e9b\u7279\u5f81\uff0c\u5305\u62ec\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u751f\u957f\u8fdf\u7f13\u4ee5\u53ca\u9885\u9762\u3001\u5fc3\u810f\u548c\u773c\u7403\u7f3a\u9677\u3002\u6b64\u5916\uff0c\u65ad\u70b9\u5206\u6790\u663e\u793a\uff0c\u5f53\u524d<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u7684\u8fd1\u7aef\u65ad\u70b9\u4f4d\u4e8eDLX5\u57fa\u56e088kb\u7684\u4e0b\u6e38\u3002\u56e0\u4e3aDLX5\u4ee5\u53caDLX6\u57fa\u56e0\u7684\u5355\u500d\u4f53\u529f\u80fd\u4e0d\u8db3\u662f\u5bfc\u81f4\u62c7\u6307\u5916\u7ffb\u7684\u4e00\u4e2a\u5df2\u77e5\u539f\u56e0[Scherer\u4ed6, 1994; van Silfhout\u4ed6, 2009]\u3001\u5728\u51b3\u5b9a\u8fd9\u79cd\u80a2\u4f53\u7f3a\u9677\u65f6\uff0cDLX5\u53caACN9\u7684\u4e0b\u6e38\uff08RP11-800O14\u4e0eD7S618\u4e4b\u95f4\uff09\u7684CUX1\u57fa\u56e0\uff08Bernardini\u4ed6[2008]\u5efa\u8bae\uff09\u548c\u6f5c\u5728\u7684\u8c03\u8282\u5143\u7d20\uff08Tzschach\u4ed6[2007]\u5efa\u8bae\uff09\u88ab\u95f4\u63a5\u8bc1\u5b9e\u6392\u9664\u5728\u5916\u3002<br><br>\u8fd9\u4e9b\u7ed3\u679c\u8bc1\u5b9e\uff0c7q21.3q31.1\u662f\u8111\u3001\u5fc3\u810f\u3001\u6210\u957f\u3001\u773c\u775b\u7684\u751f\u7406\u30fb\u53d1\u80b2\u5f88\u91cd\u8981\u7684\u57fa\u56e0\u7684\u533a\u57df\uff08\u88682\uff09\uff0c7q21.3q31.1\u91cd\u590d<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u7f3a\u5931<\/a>\u30fb\u8868\u578b\u7684\u57fa\u56e0\u5185\u5bb9\u6982\u51b5\uff0c\u5e76\u8fdb\u4e00\u6b65\u8bc1\u5b9eDLX\u57fa\u56e0\u8fdc\u7aef\u7684\u57fa\u56e0\u5ea7\u4e0e\u62c7\u5916\u7ffb\u65e0\u5173\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"\u88682-7q21-3q31-1\u306e\u6b20\u5931\u907a\u4f1d\u5b50\u306f-\u4ed6\u306e\u985e\u4f3c\u306e\u6b20\u5931\u75c7\u4f8b\u3067\u307f\u3089\u308c\u308b\u3044\u304f\u3064\u304b\u306e\u983b\u7e41\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\"><span class=\"ez-toc-section\" id=\"%E8%A1%A82_7q213q311%E7%9A%84%E7%BC%BA%E5%A4%B1%E5%9F%BA%E5%9B%A0%EF%BC%8C%E5%8F%AF%E8%83%BD%E4%B8%8E%E5%85%B6%E4%BB%96%E7%B1%BB%E4%BC%BC%E7%BC%BA%E5%A4%B1%E7%97%85%E4%BE%8B%E4%B8%AD%E7%BB%8F%E5%B8%B8%E5%87%BA%E7%8E%B0%E7%9A%84%E4%B8%80%E4%BA%9B%E4%B8%B4%E5%BA%8A%E7%89%B9%E5%BE%81%E6%9C%89%E5%85%B3\"><\/span><strong>\u88682. 7q21.3q31.1\u7684\u7f3a\u5931\u57fa\u56e0\uff0c\u53ef\u80fd\u4e0e\u5176\u4ed6\u7c7b\u4f3c\u7f3a\u5931\u75c5\u4f8b\u4e2d\u7ecf\u5e38\u51fa\u73b0\u7684\u4e00\u4e9b\u4e34\u5e8a\u7279\u5f81\u6709\u5173<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<section class=\"note_table\">\n<div class=\"table-sp-scroll\">\n<table>\n<colgroup>\n    <col style=\"width:20%\">\n   <col style=\"width:40%\">\n   <col style=\"width:40%\">\n<\/colgroup>\n<thead>\n<tr>\n<th>\u5173\u8054<\/th><th>\u57fa\u56e0\/\u86cb\u767d\u8d28<\/th><th>\u53c2\u8003\u6587\u732e<\/th>\n<\/tr>\n<tr>\n<td>\u8111\/ID\/DD<\/td><td>ACHE\u3001ATXNL7\u3001BHLHA15\u3001COG5\u3001GPC2\u3001MLL5<sup>*<\/sup>\u3001NPTX2\u3001NRCAM\u3001PNPLA8\u3001RELN\u3001SRPK2\u3001SYPL1\u3001TAC1\u3001\nTHAP5\u3001TMEM130\u3001VGF\u3001NYAP1a<\/td><td>UCSC\u57fa\u56e0\u7ec4\u6d4f\u89c8\u3001Al-Hassnan\u7b49[2011]<br>\nRymen\u7b49[2012]\u3001\u89e3\u8bfbID263273\u3002<br>\nVincent\u7b49[2008]\u3001Uliana\u7b49[2010]<\/td>\n<\/tr>\n<tr>\n<td>\u9885\u9762\u53d8\u5316<\/td><td>MLL5<sup>*<\/sup>\u3001PLOD3<sup>**<\/sup>\u3001RELN<\/td><td>Al-Hassnan\u7b49[2011]\u3001Salo\u7b49[2008]<\/td>\n<\/tr>\n<tr>\n<td>\u542c\u529b\u635f\u5931<\/td><td>GJC3\u3001LHFPL3\u3001MLL5<sup>*<\/sup>\u3001PLOD3<sup>**<\/sup>\u3001SLC26A4\u3001SLC26A5<\/td><td>UCSC\u57fa\u56e0\u7ec4\u6d4f\u89c8\u3001ID263273\u3001Salo\u7b49[2008]<br>Albert\u7b49[2006]<\/td>\n<\/tr>\n<tr>\n<td>\u773c\u775b\u5f02\u5e38<\/td><td>CLDN15\u3001CYP3A4\u3001CYP3A43\u3001CYP3A5\u3001CYP3A7\u3001HBP1\u3001NRCAM\u3001TAC1\u3001TMEM130<\/td><td>EMBL-EBI\u3001Volotinen\u7b49[2011]\u3001Lee\u7b49[2012]\u3001Demyanenko\u7b49[2011]\u3001Kennedy\u7b49[2012]<\/td>\n<\/tr>\n<tr>\n<td>\u5fc3\u810f\/\u5fc3\u810f\u7684\u7f3a\u9677<\/td><td>MOSPD3\u3001NPTX2\u3001PNPLA8\u3001SRPK2\u3001THAP5<\/td><td>UCSC\u57fa\u56e0\u7ec4\u6d4f\u89c8\u3001Paul\u7b49[2004]<\/td>\n<\/tr>\n<tr>\n<td>\u6d88\u5316\u9053\u53d8\u5316\/\u53d1\u80b2\u8fdf\u7f13\u30fb\u8eab\u6750\u77ee\u5c0f<\/td><td>CLDN15\u3001MUC3A\u3001MUCB\u3001MUC17\u3001MOGAT3<\/td><td>UCSC\u57fa\u56e0\u7ec4\u6d4f\u89c8\u3001Wada\u7b49[2013]<\/td>\n<\/tr>\n\n<\/thead><\/table>\n<\/div>\n<p>\u8fd9\u4e9b\u5173\u8054\u662f\u6839\u636e\u57fa\u56e0\u529f\u80fd\u548c\u8868\u8fbe\u4f4d\u7f6e\u3001\u57fa\u56e0\/\u8868\u578b\u7684\u91cd\u590d\uff0c\u6216\u4ee5\u524d\u7684\u5173\u8054\u8fdb\u884c\u7684\u3002 \u5e94\u8be5\u6ce8\u610f\u7684\u662f\uff0c\u4e00\u4e9b\u57fa\u56e0\u53ef\u80fd\u4e0e\u591a\u79cd\u4e34\u5e8a\u7279\u5f81\u6709\u5173\u3002 \u4e8b\u5b9e\u4e0a\uff0c\u4e00\u4e9b\u5355\u57fa\u56e0\u75c5\u53d8\u4e0e\u5404\u79cd\u4e34\u5e8a\u7279\u5f81(\u4f8b)\u4f3c\u4e4e\u6709\u5173\u3002 MLL5<sup>*<\/sup>\u6216PLOD3<sup>**<\/sup>\u3002<br>\n<sup>a<\/sup> ISCA\u5fae\u5c0f\u7f3a\u5931\u4f8b(ID nssv578204)\u5220\u9664\u3002<\/p>\n<\/section>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u8b1d\u8f9e\"><span class=\"ez-toc-section\" id=\"%E9%B8%A3%E8%B0%A2\"><\/span>\u9e23\u8c22<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6211\u4eec\u611f\u8c22\u60a3\u8005\u7684\u7236\u6bcd\u4e00\u76f4\u4ee5\u6765\u7684\u5408\u4f5c\uff0c\u4e0eDr. Jose A. Paczka(\u773c\u79d1\u533b\u751f)\u7684\u62a5\u544a\u3002 \u672c\u7814\u7a76\u5f97\u5230\u4e86PROMEP(No)\u7684\u90e8\u5206\u652f\u6301\u3002 103.5\/11\/4330, PAICYT (SA609-10) to C. Cordova-Fletes, PAICYT (No.) SA324-10\u3001FOMIX(Convocatoria M0014-2007-2010\u3001Reg) 068251) CIDICS L. Martinez-Jacobo\u306f\u3001CONACYT\u5956\u5b66\u91d1\u7684\u652f\u6301\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"\u53c2\u8003\u6587\u732e\"><span class=\"ez-toc-section\" id=\"%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\"><\/span>\u53c2\u8003\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Abuelo DN, Padre-Mendoza T: \u7531\u4e8e7q\u95f4\u8d28\u7f3a\u5931\u7684\u732b\u72b6\u54ed\u58f0\u548c\u667a\u529b\u4f4e\u4e0b(7q22\u5bfc\u81f4\u4e867q32)\u3002 J Med Genet 19: 473-476 (1982)<\/p>\n\n\n\n<p>Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, et al: SLC26A4\u57fa\u56e0\u7ecf\u5e38\u4e0e\u9ad8\u52a0\u7d22\u4eba\u7fa4\u4e2d\u7684\u524d\u5ead\u5bfc\u6c34\u7ba1\u6269\u5927\u7684\u975e\u7efc\u5408\u75c7\u6027\u542c\u529b\u969c\u788d\u6709\u5173\u3002 Eur J Human Genet 14:773-779 (2006)<\/p>\n\n\n\n<p>Al\u2010Hassnan ZN\u3001Al\u2010Bakheet A\u3001Abu\u2010Dheim N\u3001Al\u2010Younes B\u3001Colak D\u3001Kaya N:\u901a\u8fc7\u9635\u5217\u6bd4\u8f83\u57fa\u56e0\u7ec4\u6742\u4ea4\u6280\u672f\u68c0\u6d4b\u5230\u76847q22.1\uff5e7q22.3\u7684\u65b0\u578b\u57fa\u8d28\u5fae\u7f3a\u5931\u3002 Am J Med Genet 155:3128-3131 (2011)<\/p>\n\n\n\n<p>Alward W, Fingert J, Coote M, Johnson A, Lerner S, et al: \u4e0e1\u53f7\u67d3\u8272\u4f53\u5f00\u89d2\u578b\u9752\u5149\u773c\u57fa\u56e0(GLC1A)\u7684\u7a81\u7136\u53d8\u5f02\u6709\u5173 N Engl J Med 338:1022-1027 (1998)<\/p>\n\n\n\n<p>Ayraud N, Rovinski J, Lambert JC, Galiana: \u7b2c7\u67d3\u8272\u4f53\u957f\u81c2\u7684\u95f4\u8d28\u6027\u7f3a\u5931\u3002 Ann Genet 19:265-268 (1976)<\/p>\n\n\n\n<p>Bernardini L, Palka C, Ceccarini C, Capalbo A, Bottilo I, et al: \u67d3\u8272\u4f537q21.13-q22.1\u7684\u590d\u6742\u518d\u7f16\u6210\uff0c\u8bc1\u5b9e\u4e86\u4e00\u4e2a\u76f4\u63a5\u7684\u8033\u804b\u4f4d\u70b9\uff0c\u5e76\u63d0\u51fa\u4e86\u4e00\u4e2a\u65b0\u7684\u5019\u9009\u57fa\u56e0\u3002 Am J Med Genet A 146A:238-244 (2008)<\/p>\n\n\n\n<p>Chen CP, Chang SJ, Chern SR, Wu PS, Chen YT, et al: 7q\u306ede novo interstitial deletement(7q22.1\u2192q31.1)\u7684\u4ea7\u524d\u8bca\u65ad\u548c\u9057\u4f20\u57fa\u56e0521:311-315(2013)<\/p>\n\n\n\n<p>Cheong MLJ, Tsai MS, Cortes R, Harrison MR: \u7b2c1\u671f\u30fc\u5728\u5510\u6c0f\u7efc\u5408\u75c7\u7b5b\u67e5\u4e2d\u53d1\u73b0\u76847q\u67d3\u8272\u4f53\u4e2d\u95f4\u95f4\u8d28\u7f3a\u5931\u3002 \u80ce\u513f\u8bca\u65ad24:340-344(2008)<\/p>\n\n\n\n<p>Chitayat D\u3001McGillivray BC\u3001Wood S\u3001Kalousek DK\u3001Langlois S\u3001Applegarth DA:\u95f4\u8d28\u60277q\u7f3a\u5931[46,XX,del(7)(pter\u2192q21.1::q22\u2192qter)]\u53ca\u03b2\u8461\u8404\u7cd6\u919b\u9178\u9176\u548c\u56ca\u6027\u7ea4\u7ef4\u5316\u57fa\u56e0\u7684\u4f4d\u7f6e Am J Med Genet 31:655-661 (1988)<\/p>\n\n\n\n<p>Demyanenko G, Riday T, Tran TS, Dalal J, Darnell EP, et al: NrCAM\u7f3a\u5931\u5bfc\u81f4\u4e18\u8111\u76ae\u8d28\u8f74\u7a81\u5bf9\u89c6\u89c9\u76ae\u5c42\u7684\u5730\u5f62\u5b9a\u4f4d\u9519\u8bef\uff0c\u5e76\u7834\u574f\u89c6\u529b\u3002 J Neurosci 31:1545-1558(2011)<\/p>\n\n\n\n<p>Dennis NR, Neu RL, Bannerman RM: \u591a\u53d1\u6027\u7578\u5f62\u5a74\u513f\u4e2d\u7684\u90e8\u52067q\u5355\u500d\u4f53\u3002 Am J Hum Genet 29:37A (1977)<\/p>\n\n\n\n<p>Fagan K, Gill A, Henry R, Wilkinson I, Carey B: 7q\u7684\u95f4\u8d28\u6027\u7f3a\u5931\u548c\u03b2-\u8461\u8404\u7cd6\u919b\u9178\u9176\u57fa\u56e0\u6392\u9664\u56fe\u8c31\u7684\u603b\u7ed3\u3002 J Med Genet 26:619-625 (1989)<\/p>\n\n\n\n<p>Franceschini P, Silengo MC, Davi GF, Santoro MA, Prandi G, Fabris C: \u67d3\u8272\u4f537 46,XX,del(7)\u7684\u957f\u81c2\u7684\u95f4\u8d28\u6027\u7f3a\u5931(pter\u306fq2200:q32 Hum Genet 44:345-348 (1978)<\/p>\n\n\n\n<p>Gibson J, Ellis PM, Forsyth JS: \u7b2c7\u67d3\u8272\u4f53\u7684\u95f4\u8d28\u6027\u7f3a\u5931: \u6848\u4f8b\u62a5\u544a\u548c\u6587\u732e\u7efc\u8ff0\u3002 Clin Genet 22:256-265 (1982)<\/p>\n\n\n\n<p>Higginson G, Weaver DD, Magenis RE, Prescott GH, Haag C, Hepburn DJ: \u591a\u53d1\u6027\u7578\u5f62\u7684\u5e7c\u513f\u5728\u67d3\u8272\u4f537\u53f7(7q-)\u7684\u957f\u81c2\u7684\u95f4\u8d28\u6027\u7f3a\u5931\u3002 Clin Genet 10:307-312 (1976)<\/p>\n\n\n\n<p>Hull DR, Kessler KK, Juberg RC: 7q\u95f4\u8d28\u6027\u7f3a\u5931\uff0c\u5bfc\u81f4\u53d1\u80b2\u4e0d\u826f\u548c\u7279\u5f02\u7684\u54ed\u6ce3:\u4e0e\u4ee5\u524d\u62a5\u9053\u76847q1\u548c7q2\u7f3a\u5931\u7684\u6bd4\u8f83\u3002 Am J Hum Genet 31:97A (1979)<\/p>\n\n\n\n<p>Izzotti A, Longobardi M, Cartiglia C, Sacca SC: \u5c0f\u6881\u7f51\u4e2d\u7684\u7ebf\u7c92\u4f53\u635f\u4f24\uff0c\u4ec5\u53d1\u751f\u5728\u539f\u53d1\u6027\u5f00\u89d2\u578b\u9752\u5149\u773c\u548c\u5047\u6027\u5265\u8131\u6027\u9752\u5149\u773c\u4e2d\u3002 PLoS 1 6e14567 (2011)<\/p>\n\n\n\n<p>Kennedy KD, Anithachristy SA, Buie LK, Borras T: Cystatin A: \u7a81\u53d8\u7684\u808c\u9752\u9709\u7d20\u53ef\u80fd\u4e0e\u9752\u5149\u773c\u6709\u4e00\u822c\u76f8\u5173\u6027\u3002 PloS 1 7:e36301 (2012)<\/p>\n\n\n\n<p>Klep-de Pater JM, Bijlsma JB, Bleeker-Wagemakers EM, de France HF, de Vries-Ekkers CMAM: \u6709\u7b2c7\u67d3\u8272\u4f53\u957f\u81c2\u7684\u4e0d\u540c\u7f3a\u5931\u76842\u75c5\u75c7 J Med Genet 16:151-154 (1979)<\/p>\n\n\n\n<p>Lee J, Hsiao C, Yang I, Chou MH, Wu CL, et al: High-mobility group box 1\u86cb\u767d\u8d28\u662f\u5927\u9f20\u89c6\u7f51\u819c\u795e\u7ecf\u8282\u7ec6\u80de\u682aRGC-5\u4e2d\u7684\u7cd6\u57fa\u5316\u7ec8\u4ea7\u7269\u8bf1\u5bfc\u578b\u8840\u7ba1\u5185\u76ae\u751f\u957f\u56e0\u5b50A Mall Vision18:838-850(2012)<\/p>\n\n\n\n<p>Montgomery TL\u3001Wyllie J\u3001Oley C:\u4e0e7q21.2-q31.2\u7684\u95f4\u8d28\u6027\u7f3a\u5931\u76f8\u5173\u7684\u4e73\u7cdc\u6307\u75c7\u548c\u9752\u5149\u773c\u3002 Clin Dysmorphol 9:235-239 (2000)<\/p>\n\n\n\n<p>Mookherjee S, Acharya M, Banerjee D, Bhattacharjeee A, Ray K: \u5728MYOC\u4e0a\u8c03\u65b9\u9762CYP1B1\u53c2\u4e0e\u7684\u5206\u5b50\u57fa\u7840\u53ca\u5176\u5728\u9752\u5149\u773c\u53d1\u75c5\u673a\u5236\u4e2d\u7684\u6f5c\u5728\u610f\u4e49 PLoS 7:e45077 (2012)\u3002<\/p>\n\n\n\n<p>Morey MA, Higgins RR: \u4f34\u968f7q\u7684\u95f4\u8d28\u6027\u7f3a\u5931\u7684\u963f\u6885\u91cc\u4e9a\u7efc\u5408\u75c7\u3002 Am J Med Genet 35:95-99 (1990)<\/p>\n\n\n\n<p>Pall GS, Wallis J, Axton R, Brownstein DG, Gautier P, et al: \u542b\u6709MSP\u7684\u65b0\u578b\u8de8\u819c\u86cb\u767d\u5728\u53f3\u5fc3\u5ba4\u53d1\u80b2\u4e2d\u7684\u4f5c\u7528\u3002 \u57fa\u56e0\u7ec484:1051-1059(2004)<\/p>\n\n\n\n<p>Rivera H, Sanchez-Corona J, Burgos-Fuentes VR, Melendez-Ruiz MJ: 7q22\u7684\u7f3a\u5931\u4e0e\u7f3a\u5931\u6307\u6570\u3002 Genet Couns 2:27-31 (1991)<\/p>\n\n\n\n<p>Rymen D\u3001Keldermans L\u3001Race V\u3001Rregal L\u3001Deconinck N, et al: COG5-CDG: \u4e34\u5e8a\u8303\u56f4\u7684\u6269\u5927\u3002 \u5b64\u513f\u9662J Reare Dis 7:94 (2012)<\/p>\n\n\n\n<p>Salo AM, Cox H, Farndon P, Moss C, Grindulis H, et al: \u7531\u8d56\u6c28\u9170\u7f9f\u5316\u91763\u57fa\u56e0\u7684\u7a81\u7136\u53d8\u5f02\u5f15\u8d77\u7684\u7ed3\u7f14\u7ec4\u7ec7\u75be\u75c5\u3002 Am J Hum Genet 83:495-503 (2008)<\/p>\n\n\n\n<p>Scherer S, Poorkaj P, Allen T, Kim J, Geshuri D, et al: \u67d3\u8272\u4f537\u53f7\u4e0a\u7684\u5e38\u67d3\u8272\u4f53\u663e\u6027\u5939\u677f\/\u88c2\u8db3\u57fa\u56e0\u4f4d\u70b9\u7684\u7cbe\u7ec6\u5236\u56fe\uff0c\u6ce2\u6bb5q21.3- 1. Am J Hum Genet 55:12-20 (1994)<\/p>\n\n\n\n<p>Serup L:\u7b2c7\u67d3\u8272\u4f53\u957f\u81c2\u7684\u95f4\u8d28\u6027\u7f3a\u5931\u3002 Hum Genet 54:19-23 (1980)<\/p>\n\n\n\n<p>Stoilov I\u3001Akarsu N\u3001Sarfarazi M:\u4f5c\u4e3a\u67d3\u8272\u4f532p21\u4e0a\u7684\u4e0eGLC3A lo-cus\u76f8\u5173\u7684\u5bb6\u65cf\u53f2\u4e2d\u539f\u53d1\u6027\u5148\u5929\u6027\u9752\u5149\u773c(\u8461\u8404\u7403\u83cc)\u4e3b\u8981\u539f\u56e0\u7684\u8bc6\u522b\u7ec6\u80de\u8272\u7d20P4501B1(CYP1B1)\u76843\u79cd\u4e0d\u540c\u622a\u65ad\u7a81\u53d8\u7684\u540c\u5b9a\u3002 Hum Mol Gen 6:641\u2013647 (1997)<\/p>\n\n\n\n<p>Tajara EH, Varella-Garcia M, Gusson AC: \u7b2c7\u67d3\u8272\u4f53\u7684\u95f4\u8d28\u6027\u957f\u81c2\u7f3a\u5931\u4ee5\u53ca\u76f4\u6307\u75c7\u3002 Am J Med Genet 32:192-194(1989)<\/p>\n\n\n\n<p>Thorleifsson G, Walters GB, Hewitt AW, Masson G, Helgason A, et al: \u4e0eCAV1\u53caCAV2\u5f88\u8fd1\u7684\u4e00\u822c\u7684\u53d8\u5f02\u578b\uff0c\u539f\u53d1\u6027\u5f00\u89d2\u578b\u9752\u5149\u773c Nat Genet 42:906-909 (2010)<\/p>\n\n\n\n<p>Turner H\u3001Budak M\u3001Akinci M\u3001Wolosin JM:\u4f7f\u7528\u5be1\u6838\u82f7\u9178\u82af\u7247\u5bf9\u4eba\u7c7b\u7ed3\u819c\u548c\u89d2\u819c\u4e0a\u76ae\u57fa\u56e0\u8868\u8fbe\u7684\u6bd4\u8f83\u5206\u6790\u3002 Ophthalmol Vis Sci 48:2050-2061 (2007)\u6295\u8d44\u3002<\/p>\n\n\n\n<p>Tzschach A, Menzel C, Erdogan F, Schubert M, Hoeltzenbein M, et al: \u901a\u8fc7tiling path array CGH\u768416 Mb\u7684\u95f4\u8d28\u6027\u67d3\u8272\u4f537q21\u7f3a\u5931\u7684\u7279\u5f81 Am J Med Genet A 143:333-337 (2007)<\/p>\n\n\n\n<p>Uliana V, Grosso S, Cioni M, Ariani F, Papa FT, et al: \u67d3\u8272\u4f537\u7684\u8272\u5e26q22.2-q22.3\u4e0a3.2Mb\u7684\u5fae\u5c0f\u7f3a\u5931\u3001\u8fc7\u6210\u957f\u53ca\u5ef6\u8fdf Eur J Med Genet 53:168-170 (2010)<\/p>\n\n\n\n<p>van Silfhout AT, van den Akker PC, Dijkhuizenet T, Verheij J, Olderode-Berends M, et al: \u67d3\u8272\u4f537q\u5f02\u5e38(SHFM1)\u7684\u624b\u8db3\u5206\u88c2\u7578\u5f62: \u4f5c\u4e3a\u56e0\u679c\u673a\u5236\u7684\u529f\u80fd\u534a Eur J Hum Genet 17:1432-1438 (2009)<\/p>\n\n\n\n<p>\u4e0e\u81ea\u95ed\u75c7\u548c\u667a\u529b\u969c\u788d\u6709\u5173VincentJB\u3001Choufani S\u3001Horike S\u3001Stachowiak B\u3001Li M\u7b49:A\u8f6c\u4f4dt(6;7)(p11-p12;q22):\u88c2\u89e3\u70b9\u5019\u9009\u57fa\u56e0\u7684\u5b9a\u4f4d\u548c\u8bc6\u522b\u3002 \u7cbe\u795e\u79d1Genet 18:101-109 (2008)<\/p>\n\n\n\n<p>Volotinen M, Hakcola J, Pelkonen O, Vapaatalo H, Mmaenpa A J: \u773c\u79d1\u7528\u567b\u5417\u6d1b\u5c14\u7684\u4ee3\u8c22: \u4e00\u79cd\u8001\u836f\u7684\u65b0\u65b9\u9762 \u57fa\u7840\u4e34\u5e8a\u836f\u7406\u5b66\u5de5\u5177108:297-303 (2011)<\/p>\n\n\n\n<p>\u548c\u7530M, \u7530\u6751A, \u9ad8\u6865N, \u6d25\u5317S: \u8001\u9f20\u7684Claudin2\u548c15\u7684\u7f3a\u5931\uff0c\u5bfc\u81f4\u80a0\u9053\u65c1\u7ec6\u80de\u6027Na(+)\u6d41\u548c\u8425\u517b\u7269\u8d28\u8fd0\u8f93\u7684\u7f3a\u5931\u5f15\u8d77\u8425\u517b\u4e0d\u826f\u800c\u6b7b\u4ea1\u3002 \u6d88\u5316\u5185\u79d1:S0016-5085(2012)<\/p>\n\n\n\n<p>Young RS, Weaver DD, Kukolich MK, Heerema NA, Palmer CG, et al: \u7b2c7\u67d3\u8272\u4f53\u957f\u81c2\u7684\u672b\u7aef\u7f3a\u5931\u4ee5\u53ca\u95f4\u8d28\u7f3a\u5931: \u5171\u67095\u4e2a\u65b0\u7684\u75c5\u4f8b\u5bf9\u8c61 Am J Med Genet 17:437-450 (1984)\u3002<\/p>\n\n\n\n<p>Zhang T, Xiang C, Gale D, Carreiro S, Wu E, Zhang EY: \u5728\u836f\u7269\u8f93\u9001\u4f53\u548c\u4eba\u7c7b\u773c\u7403\u5c4f\u969c\u4e2d\u7684\u8868\u8fbe\u7ec6\u80de\u8272\u7d20P450 mRNA\u53d1\u73b0: \u5bf9\u773c\u90e8\u836f\u836f\u7269\u52a8\u6001\u7684\u5f71\u54cd Drag Metab Dispo36:1300-1307(2008).<\/p>\n\n\n\n<div id=\"paper-foot\" class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h4 class=\"wp-block-heading\" id=\"karger\"><span class=\"ez-toc-section\" id=\"KARGER\"><\/span>KARGER<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>e-Mail karger@karger.com ww.karger.com\/msy\u8457\u4f5c\u6743 2013 S. Karger AG, Basel 1661-8769\/13\/0046-0285$38.00\/0<\/p>\n\n\n\n<p>Augusto Rogas Martinez\u3001MD\/DSc<\/p>\n\n\n\n<p>\u5206\u5b50\u751f\u7269\u5b66\u8054\u5408\u3001\u57fa\u56e0\u7ec4\u3001\u79d1\u5b66\u7814\u7a76\u4e2d\u5fc3\u30fc\u3001Saud\u5e02\u6c11\u56e2\u4f53\u3001\u5171\u540c\u7814\u7a76\u673a\u6784<\/p>\n\n\n\n<p>Monterrey64460 (Mexico) Nuevo\u30fbLe\u00f3n\u5927\u5b66\u7535\u5b50\u90ae\u4ef6\u30fbAllojastmus@gmail.com<\/p>\n<\/div><\/div>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"L. Mart\u00ednez-Jacobo a&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q21-3-31-1deletion\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":898,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[251],"tags":[319,323,236],"class_list":["post-45862","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-treatise-zh-hans","tag-319","tag-323","tag-symptom"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/45862","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=45862"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/45862\/revisions"}],"predecessor-version":[{"id":109670,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/45862\/revisions\/109670"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/898"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=45862"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=45862"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=45862"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}